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Osteogenesis Imperfecta (OI) is a genetic disorder characterized by bones that break
easily, often from little or no apparent cause. There are at least four distinct forms of
the disorder, representing extreme variation in severity from one individual to another.
For example, a person may have as few as ten or as many as several hundred fractures in a
lifetime.

Prevalence

While the number of persons affected with OI in the United States is unknown, the best
estimate suggests a minimum of 20,000 and possibly as many as 50,000.

Diagnosis

Most forms of OI are caused by imperfectly formed bone collagen, the result of a
genetic defect. Collagen is the major protein of the body's connective tissue and can be
likened to the framework around which a building is constructed. In OI, a person has
either less collagen or a poorer quality of collagen.

Collagen testing, which is done through a skin biopsy, is used to determine the amount
of collagen present and its structure. While these studies identify the vast majority of
people who have OI, approximately 15% of individuals with obvious features of OI do not
demonstrate a collagen abnormality sufficient enough to be detected by the testing.
Because of the complexity of the test, as well as the limited number of laboratories that
are qualified to do the testing, it may take 3 to 6 months before test results are known.

Clinical Features

The characteristic features of OI vary greatly from person to person and not all
characteristics are evident in each case; however, the general features of OI, which vary
in characteristics as well as severity, are:

Type I OI:

Most common

Bones fracture easily

Can usually be traced through the family

Near normal stature or slightly shorter

Blue sclera

Dental problems

Hearing loss beginning in the early twenties and thirties

Most fractures occur before puberty; occasionally women will have fractures after
menopause

Triangular face

Tendency toward spinal curvatures

Type II OI:

Newborns severely affected; frequently lethal

Usually resulting from a new gene mutation

Very small stature with extremely small chest and under developed lungs

Type III OI:

Tend to be isolated family incidents

Very small in stature - some only three feet tall

Fractures at birth very common

X-ray may reveal healing of in utero fractures

Severe early hearing loss

Loose joints and poor muscle development in arms and legs

Barrel-shaped rib cage

Type IV OI:

Can frequently be traced through the family

Bones fracture easily - most before puberty

Normal or near normal colored sclera

Problems with teeth - more than type 1

Spinal curvatures

Loose joints

Inheritance Factors

OI can be dominantly or recessively inherited and can also occur as a mutation.
Therefore, individuals with OI and parents of children with OI are strongly encouraged to
seek genetic counseling to determine the likelihood of OI recurring in their families.

Treatment

At present there is no cure for OI. Treatment is directed toward preventing or
correcting the symptoms. Care of fractures, extensive surgical and dental procedures, and
physical therapy are often recommended for persons with OI. Wheelchairs, braces, and other
custom-made equipment are often necessary. Individuals are encouraged to seek out medical
centers where all aspects of OI, including biochemical, orthopedic, dental, and hearing
problems, can be treated.

An orthopedic procedure called "rodding" is frequently considered for
individuals with OI. This treatment involves inserting metal rods through the length of
the long bones to strengthen them and prevent deformities.

Prognosis

The prognosis for an individual with OI varies greatly depending on the number of
symptoms as well as the severity of the symptoms. Despite numerous fractures, restricted
activity, and short stature, many adults and children with OI lead productive and happy
lives.